Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in YARS

Name c.121G>A
Alias Gly41Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGA to AGA
Phenotype CMT1/2
htz/hmz htz
Family History D

Jordanova et al., 2006
References

Genomic cDNA Protein
Observed c.121G>A
Deduced c.121G>A G41R
Region EX2 CDS catalytic
Date Added: 08-Dec-06 ID: 801

Name c.458_469delTAAAGCAGGTGG
Alias Val153_Val156del
Description Deletion in coding region causing 4 amino acids deletion
Codon Change From - to -
Phenotype CMT1/2
htz/hmz htz
Family History de novo

Jordanova et al., 2006
References

Genomic cDNA Protein
Observed c.458_469delTAAAGCAGGTGG
Deduced c.458_469delTAAAGCAGGTGG V153_V156del
Region EX4 CDS catalytic
Date Added: 11-Dec-06 ID: 803

Name c.586G>A
Alias Glu196Lys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAG to AAG
Phenotype CMT1/2
htz/hmz htz
Family History D

Jordanova et al., 2006
References

Genomic cDNA Protein
Observed c.586G>A
Deduced c.586G>A E196K
Region EX5 CDS catalytic
Date Added: 11-Dec-06 ID: 802



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